E46L; SCA10; Spinocerebellar Ataxia 10; Brain protein E46 homolog

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

200ug/ml (lot specific)

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customera??s specifications, please inquire.

Small volumes of anti-ATXN10 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB), Immunocytochemistry (ICC), Immunohistochemistry (IHC) Formalin/Paraffin, ELISA (ELISA)

46,286 Da

ataxin 10

ataxin-10

Ataxin-10

SCA10??[Similar Products]

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]

ataxin-10: Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. Belongs to the ataxin-10 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 22q13.31

Cellular Component: cell soma; cytoplasm; dendrite; extracellular space; membrane; perinuclear region of cytoplasm; plasma membrane

Molecular Function: protein binding

Biological Process: nervous system development; neurite development

Disease: Spinocerebellar Ataxia 10

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